Canonical Allele Identifier: CA3236392

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 588129
• ClinVar RCV Id: RCV000946016 ; RCV002316049 ; RCV003432750
• dbSNP Id: rs372752190
• ExAC: 5:37001146 G / A
• gnomAD v2: 5-37001146-G-A
• gnomAD v3: 5-37001044-G-A
• gnomAD v4: 5-37001044-G-A
• MyVariant Identifiers: chr5:g.37001146G>A (hg19) ; chr5:g.37001044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37001044G>A , CM000667.2:g.37001044G>A	GRCh38
NC_000005.9:g.37001146G>A , CM000667.1:g.37001146G>A	GRCh37
NC_000005.8:g.37036903G>A	NCBI36
NG_006987.1:g.129162G>A
NG_006987.2:g.129162G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3630G>A MANE Select	ENSP00000282516.8:p.Leu1210=
ENST00000652901.1:c.3630G>A	ENSP00000499536.1:p.Leu1210=
ENST00000282516.12:c.3630G>A	ENSP00000282516.8:p.Leu1210=
ENST00000448238.2:c.3630G>A	ENSP00000406266.2:p.Leu1210=
ENST00000621733.1:c.1-63534G>A	ENSP00000480694.1:n.1-63534G>A
NM_015384.4:c.3630G>A	NP_056199.2:p.Leu1210=
NM_133433.3:c.3630G>A	NP_597677.2:p.Leu1210=
XM_005248280.2:c.3630G>A	XP_005248337.1:p.Leu1210=
XM_005248282.3:c.2886G>A	XP_005248339.2:p.Leu962=
XM_006714467.2:c.3630G>A	XP_006714530.1:p.Leu1210=
XM_006714468.1:c.3432G>A	XP_006714531.1:p.Leu1144=
XM_011514014.1:c.3249G>A	XP_011512316.1:p.Leu1083=
XM_011514015.1:c.3630G>A	XP_011512317.1:p.Leu1210=
XM_005248280.3:c.3630G>A	XP_005248337.1:p.Leu1210=
XM_005248282.5:c.2970G>A	XP_005248339.3:p.Leu990=
XM_006714468.2:c.3432G>A	XP_006714531.1:p.Leu1144=
XM_017009329.1:c.3630G>A	XP_016864818.1:p.Leu1210=
XM_017009330.2:c.2013G>A	XP_016864819.1:p.Leu671=
XM_017009331.1:c.2004G>A	XP_016864820.1:p.Leu668=
NM_133433.4:c.3630G>A MANE Select	NP_597677.2:p.Leu1210=
NM_015384.5:c.3630G>A	NP_056199.2:p.Leu1210=